Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 17 (of 17 Records) |
Query Trace: Krabbe Disease[original query] |
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Deletion of exons 11-17 and novel mutations of the galactocerebrosidase gene in adult- and early-onset patients with Krabbe disease. Journal of neurology 2001 1 247 (11): 875-7. Selleri S, Torchiana E, Pareyson D, Lulli L, Bertagnolio B, Savoiardo M, Farina L, Carrara F, Filocamo M, Gatti R, Sghirlanzoni A, Uziel G, Finocchiaro |
Newborn screening for lysosomal storage disorders: clinical evaluation of a two-tier strategy. Pediatrics 2004 Oct 114 (4): 909-16. Meikle Peter J, Ranieri Enzo, Simonsen Henrik, Rozaklis Tina, Ramsay Steve L, Whitfield Phillip D, Fuller Maria, Christensen Ernst, Skovby Flemming, Hopwood John |
GALC deletions increase the risk of primary open-angle glaucoma: the role of Mendelian variants in complex disease. PloS one 2011 6 (11): e27134. Liu Yutao, Gibson Jason, Wheeler Joshua, Kwee Lydia Coulter, Santiago-Turla Cecile M, Akafo Stephen K, Lichter Paul R, Gaasterland Douglas E, Moroi Sayoko E, Challa Pratap, Herndon Leon W, Girkin Christopher A, Budenz Donald L, Richards Julia E, Allingham R Rand, Hauser Michael |
The Spectrum of Krabbe Disease in Greece: Biochemical and Molecular Findings. JIMD reports 2015 Jun . Dimitriou Evangelia, Cozar M?nica, Mavridou Irene, Grinberg Daniel, Vilageliu Lluïsa, Michelakakis Hel |
Regional differences in fiber tractography predict neurodevelopmental outcomes in neonates with infantile Krabbe disease. NeuroImage. Clinical 2015 7 792-8. Gupta A, Poe M D, Styner M A, Panigrahy A, Escolar M |
Measurement of psychosine in dried blood spots--a possible improvement to newborn screening programs for Krabbe disease. Journal of inherited metabolic disease 2015 Sep 38 (5): 923-9. Turgeon Coleman T, Orsini Joseph J, Sanders Karen A, Magera Mark J, Langan Thomas J, Escolar Maria L, Duffner Patricia, Oglesbee Devin, Gavrilov Dimitar, Tortorelli Silvia, Rinaldo Piero, Raymond Kimiyo, Matern Dietri |
Neuroradiological, neurophysiological and molecular findings in infantile Krabbe disease: two case reports. Balkan journal of medical genetics : BJMG 2016 Jul 19 (1): 85-90. Vargiami E, Papathanasiou E, Batzios S, Kyriazi M, Dimitriou E, Anastasiou A, Michelakakis H, Giese A-K, Zafeiriou D |
Newborn screening for Krabbe disease in New York State: the first eight years' experience. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Mar 18 (3): 239-48. Orsini Joseph J, Kay Denise M, Saavedra-Matiz Carlos A, Wenger David A, Duffner Patricia K, Erbe Richard W, Biski Chad, Martin Monica, Krein Lea M, Nichols Matthew, Kurtzberg Joanne, Escolar Maria L, Adams Darius J, Arnold Georgianne L, Iglesias Alejandro, Galvin-Parton Patricia, Kronn David F, Kwon Jennifer M, Levy Paul A, Pellegrino Joan E, Shur Natasha, Wasserstein Melissa P, Caggana Michele, |
[Clinical and genetic analysis of a patient with Krabbe disease presented as peripheral neuropathy]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2019 8 36 (8): 821-825. Wang Wei, Qin Yali, Wang Renbin, Zhang Weihe, Zhang Linwei, Cui Lei, Jin Ming, Jiao Yujuan, Jiao Jingso |
Genotype and phenotype classification of 29 patients affected by Krabbe disease. JIMD reports 2019 6 46 (1): 35-45. Madsen Anna M H, Wibrand Flemming, Lund Allan M, Ek Jakob, Dunø Morten, Østergaard Elseb |
Elevated Leukodystrophy Incidence Predicted From Genomics Databases. Pediatric neurology 2020 9 111 66-69. Soderholm Haille E, Chapin Alexander B, Bayrak-Toydemir Pinar, Bonkowsky Joshua |
Adult-onset Krabbe disease due to a homozygous GALC mutation without abnormal signals on an MRI in a consanguineous family: A case report. Molecular genetics & genomic medicine 2020 7 8 (9): e1407. Xia Zhou, Wenwen Yin, Xianfeng Yu, Panpan Hu, Xiaoqun Zhu, Zhongwu S |
Genetic testing of leukodystrophies unraveling extensive heterogeneity in a large cohort and report of five common diseases and 38 novel variants. Scientific reports 2021 2 11 (1): 3231. Mahdieh Nejat, Soveizi Mahdieh, Tavasoli Ali Reza, Rabbani Ali, Ashrafi Mahmoud Reza, Kohlschütter Alfried, Rabbani Bahar |
Clinical and molecular findings in 6 Turkish cases with Krabbe disease. The Turkish journal of pediatrics 2022 3 64 (1): 69-78. Aslanger Ayça Dilruba, ?engenç Esma, Kölemen Ay?e Betül, Demiral Emine, Alkan Alpay, ??can Ak?n, Ye?il Göz |
The genetic and phenotypic spectra of adult genetic leukoencephalopathies in a cohort of 309 patients. Brain : a journal of neurology 2022 11 . Wu Chujun, Wang Mengwen, Wang Xingao, Li Wei, Li Shaowu, Chen Bin, Niu Songtao, Tai Hongfei, Pan Hua, Zhang Zaiqia |
Molecular genetic screening of full-term small for gestational age. BMC pediatrics 2023 5 23 (1): 217. Shuman Zhang, Lingna Zhou, Lin Zhang, Yu Wang, Huaiyan Wa |
Dual rare genetic diseases in five pediatric patients: insights from next-generation diagnostic methods. Orphanet journal of rare diseases 2024 4 19 (1): 159. Yupeng Liu, Xue Ma, Zhehui Chen, Ruxuan He, Yao Zhang, Hui Dong, Yanyan Ma, Tongfei Wu, Qiao Wang, Yuan Ding, Xiyuan Li, Dongxiao Li, Jinqing Song, Mengqiu Li, Ying Jin, Jiong Qin, Yanling Ya |
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- Page last updated:May 20, 2024
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